ClinVar for Gene (Select 389376) - ClinVar - NCBI

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Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062937	GRCh37/hg19 6p21.33(chr6:30629521-30962674)x3	DDR1, DHX16 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 2216375	NM_205854.3(SFTA2):c.187G>A (p.Val63Ile)	SFTA2 (V63I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1679763	Single allele	DDR1, GTF2H4 +8 more	Duplication	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 395628	GRCh37/hg19 6p21.33(chr6:30860807-30957425)x3	DDR1, GTF2H4 +4 more	Copy number gain	See cases	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic